ABSTRACT
The familial prevalence of Brugada syndrome (BrS) in a consecutive series of patients was prospectively determined. BrS is genetically determined with autosomal dominant transmission. The familial prevalence of the BrS is unknown. A detailed pedigree of each family of patients with BrS was assembled and permission was obtained to invite relatives for electrocardiography and an ajmaline challenge. Sixty-two of 98 patients participated in the study and were included over a 6-year period. SCN5A genotyping was performed in 56 of these 62 patients (90%). Electrocardiograms (ECGs) of 488 relatives (mean age 38 ± 20 years, 45% men) were recorded and 270 of these relatives agreed to undergo an ajmaline challenge. Spontaneous type 1 BrS ECG was found in 4 of 488 relatives (0.8%). In the group of relatives in whom ajmaline challenge was performed (n = 270), the finding was positive in 79 subjects (29%). SCN5A genotyping identified 5 other affected relatives. As a result, the total number of affected relatives was 88. Standard 12-lead ECG was normal in 64 of the 88 affected relatives (73%). Mean percentage of affected relatives per family was 27 ± 32% (95% confidence interval 19 to 35). Familial forms of BrS were observed in 41 of the 62 families (66%) and no SCN5A mutations were found in sporadic forms. In conclusion, after active family screening affected relatives were found in almost 1/3 of subjects. BrS appeared to be a familial disease in 2/3 of subjects.
Subject(s)
Brugada Syndrome/genetics , DNA/genetics , Muscle Proteins/genetics , Mutation , Sodium Channels/genetics , Adult , Brugada Syndrome/diagnosis , Brugada Syndrome/epidemiology , Electrocardiography , Female , Follow-Up Studies , France/epidemiology , Genotype , Humans , Male , Middle Aged , NAV1.5 Voltage-Gated Sodium Channel , Pedigree , Polymerase Chain Reaction , Prospective StudiesABSTRACT
The wireless capsule video endoscopy is useful in patients with occult blood loss, but is contraindicated in patients with cardiac pacemaker (PM). No case of interference has been published. We report the case of a patient with a PM implanted in the abdominal wall. After capsule ingestion, cardiac monitoring showed no modification of the PM compartment (VOO, unipolar mode) but the capsule recording reveal more than 3 hours of loss of image. The wireless capsule endoscopy is safe in patients with PMs in VOO mode. Nevertheless important interference was noted in the recording when the capsule was near the PM.
